Research Information System
Thesis Type: Expertise In Medicine
Institution Of The Thesis: Gazi Üniversitesi, Tıp Fakültesi, Turkey
Approval Date: 2016
Student: PELİN ÖZYAVUZ ÇUBUK
Supervisor: FERDA EMRİYE PERÇİN
Abstract:Anorectal malformations are the most common congenital anomalies (2-6/1000) treated with surgical procedures. These malformations are classified in the group of multifactorial diseases because both genetical causes and environmental factors play a role in the etiology. In the present study, we aimed to investigate comman etiologic factors of anorectal malformations in ten patients which are not associated with any genetic syndrome and abnormal cytogenetic analysis. In this study, after analyzing the results of array CGH of ten patients with ARM, benign CNV is determined in 2 patients and unknown clinical significance CNV is determined in 2 patients. Deletion of DGCR6, DGCR5 and PRODH gens which are determined in two cases with anal atresia and 22q11 deletion, are showed in case 1 and 8. In conclusion; DGRC6 gen which is a crucial gene for noral crest cell migration and plays a critical role in sendrom of 22q11 deletion, could be responsible of anal atresia. Further studies should be done on this gene.